HSD3B1 Gene Polymorphisms With Outcomes in SARS-CoV-2 Infected Patients

Covid19 Clinical Trial

Official title:

An Exploratory Analysis of the Expression of Receptors and Activating Proteases Mediating SARS-CoV-2 Entry and the Association Between HSD3B1 Gene Polymorphisms With Outcomes in SARS-CoV-2 Infected Patients

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04516850
• Other study ID #: COVID19-GeneExp
• Status: Completed
• Start date: June 8, 2020
• Est. completion date: February 21, 2023

Study information

• Verified date: April 2023
• Source: Oncology Institute of Southern Switzerland
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

The study includes 2 sub-projects.

Sub-project 1: The aim is to evaluate the expression of receptors and activating proteases mediating SARS-CoV-2 entry and spreading in the local population of Ticino.

Sub-project 2: The aim is to investigate the association between the HSD3B1 gene variations and outcome of COVID-19 in the local population of Ticino.

Description:

Sub-project 1:

This is an observational retrospective study that aims to evaluate the expression of receptors and activating proteases mediating SARS-CoV-2 entry and spreading in the local population of Ticino. The level of expression of these factors will be compared between infected and non-infected subjects. The sub-project will examine RNA samples from nasopharyngeal swabs taken from subjects tested for COVID-19.

Sub-project 2:

This is a haplotype- and diplotype-based case-control retrospective study that aims to investigate the association between the HSD3B1 gene variations and outcome of COVID-19 in the local population of Ticino. The gene status of HSD3B1 will be defined and compared between two groups of patients: the patients who experienced a severe SARS-CoV-2 infection (severe pulmonary insufficiency, ICU admission, eventually death) and the group with a mild-moderate COVID-19 disease without pulmonary insufficiency and oxygen need.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 400
• Est. completion date: February 21, 2023
• Est. primary completion date: February 21, 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

Sub-project 1

Inclusion Criteria:

• Availability of RNA extracted from nasopharyngeal swabs taken from subjects tested for COVID-19;

• Subject is aged 18 years or over;

• Written informed consent (for SARS-CoV-2 positive patients only; see §5 for further details).

Exclusion Criteria:

• Documented refusal.

Sub-project 2

Inclusion Criteria:

• Female and male hospitalized SARS-CoV-2 patients;

• Patient is aged 18 years or over;

• Availability of archival tissue samples collected at any time before SARS-CoV-2 infection for any clinical reason;

• Clinico-pathological characteristics of the COVID-19 and clinical outcomes recorded in the EOC and Clinica Luganese Moncucco database;

• Written informed consent (see §5 for further details).

Exclusion Criteria:

• Documented refusal.

Related Conditions & MeSH terms

• Covid19

Intervention

Genetic:
• Expression of receptors and activating proteases
Level of expression of the mRNA of the genes encoding ACE2, TMPRSS2, TMPRSS4 and AR along with reference genes (beta-actin and EPCAM) in nasopharyngeal swabs taken from patients tested for COVID-19
• Polymorphism of the HSD3B1
Formalin-fixed paraffin embedded tissue blocks will be amplified using polymerase chain reaction (PCR) based experiments followed by direct sequencing (Sanger sequencing)

Locations

Country	Name	City	State
Switzerland	Oncology Institute of Southern Switzerland (IOSI)	Bellinzona
Switzerland	Clinica Luganese Moncucco	Lugano

Sponsors (3)

Lead Sponsor	Collaborator
Ricardo Pereira Mestre	Institute of Oncology Research (IOR), Istituto Cantonale di Patologia

Country where clinical trial is conducted

Switzerland, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Expression of receptors and activating proteases	Determination of the level of expression of the mRNA genes	1 year
Primary	Prevalencen of olymorphisms of the HSD3B1	Determination of the prevalence of polymorphisms of the HSD3B1 patients with severe and mild-moderate SARS-CoV-2 infection	1 year
Primary	Association of polymorphisms of the HSD3B1	Evaluation of the association of polymorphisms of the HSD3B1 with clinico-pathological parameters	1 year